Guillermo Reales

I was today years old when I realized that the Chromosome 2 fusion event which is unique to modern humans probably coincides with a possible population bottleneck event ~900kya.

Could the one have caused the other?

This is my adaptation of the published figure

DOI: 10.1126/science.abq7487

25.05.2025 20:10 — 👍 24    🔁 5    💬 4    📌 1

The most famous heuristic in mapping gwas snps to genes is "it's usually the closest gene".

But only slightly less well-known is this: consider the colocalized phenotypes.

That is, a genetic variant seldom disrupts exactly one phenotype.

What else does tugging on that thread do?

13.04.2025 18:36 — 👍 69    🔁 17    💬 3    📌 2

4 people round a table in a radio studio, smiling for a photo.

I joined Will Dixon and the team at BBC’s Curious Cases to chat about how weather and seasons might influence inflammation and pain. A really fun conversation!

www.bbc.co.uk/sounds/play/...

12.05.2025 17:38 — 👍 11    🔁 3    💬 0    📌 0

RapidoPGS: A Fast and Light Package to Compute Polygenic Risk Scores Quickly computes polygenic scores from GWAS summary statistics of either case-control or quantitative traits without parameter tuning. Reales,G., Vigorito, E., Kelemen,M., Wallace,C. (2021) &lt;<a hre...

RapidoPGS 2.3.1 is now available on CRAN 🥳 (cran.r-project.org/web/packages...).
Changes in dependencies were making RapidoPGS multi to fail. This new version should work as expected. Test it out!

19.02.2025 12:22 — 👍 1    🔁 0    💬 0    📌 0

Here we are, looking forward to 2 days of exciting Genomics! If you're at the event and in need of a Bioinformatician, I'm open for new positions! 😁

29.01.2025 08:36 — 👍 2    🔁 0    💬 0    📌 0

Hello, world!

29.11.2024 21:36 — 👍 3    🔁 0    💬 0    📌 0